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Am J Med Genet. 1990 Aug;36(4):404-7.

Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia.

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1
Department of Pediatrics, State University of New York, Buffalo.

Abstract

A short-limb skeletal dysplasia was diagnosed prenatally at 35 weeks of gestation. After birth the infant was found to have hypochondroplasia. The parents are of average stature, and the child's disorder presumably occurred as a fresh mutation. This appears to be the first reported case of hypochondroplasia diagnosed prenatally as a "non-specific skeletal dysplasia" in the absence of a family history. Evaluation after birth showed that the infant, whose parents are of normal stature, has hypochondroplasia.

PMID:
2202213
DOI:
10.1002/ajmg.1320360407
[Indexed for MEDLINE]
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